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dc.contributor.authorGuldberg, P
dc.contributor.authorZschocke, J
dc.contributor.authorDagbjartsson, A
dc.contributor.authorHenriksen, K F
dc.contributor.authorGüttler, F
dc.date.accessioned2010-09-16T09:57:08Z
dc.date.available2010-09-16T09:57:08Z
dc.date.issued1997-11
dc.date.submitted2010-09-16
dc.identifier.citationEur. J. Hum. Genet. 1997, 5(6):376-81en
dc.identifier.issn1018-4813
dc.identifier.pmid9450182
dc.identifier.urihttp://hdl.handle.net/2336/111215
dc.description.abstractIceland was settled during the late 9th and early 10th centuries AD by Vikings who arrived from Norway and the British Isles. Although it is generally acknowledged that the Vikings brought with them Celtic slaves, the relative contribution of these peoples to the modern Icelandic gene pool has been a matter of considerable discussion. Most population genetic studies using classical markers have indicated a large Irish genetic contribution. We have investigated the molecular basis of phenylketonuria (PKU) in 17 Icelandic patients and found 9 different mutations in the phenylalanine hydroxylase gene. One novel mutation, Y377fsdelT, accounts for more than 40% of the mutant chromosomes. Haplotype data support a common ancestral origin of the mutation, and genealogical examination extending back more than 5 generations shows that this mutation has probably arisen in an isolated part of southern Iceland and was enriched by a founder effect. At least 7 PKU mutations have originated outside iceland. The almost exclusively Scandinavian background of these mutations and the complete absence of common Irish PKU mutations strongly support historical and linguistic evidence of a predominant Scandinavian heritage of the Icelandic people.
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.urlhttp://www.nature.com/ejhgen
dc.subject.meshDNA Mutational Analysisen
dc.subject.meshFounder Effecten
dc.subject.meshFrameshift Mutationen
dc.subject.meshGene Frequencyen
dc.subject.meshGene Poolen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshMaps as Topicen
dc.subject.meshPedigreeen
dc.subject.meshPhenylalanine Hydroxylaseen
dc.subject.meshPhenylketonuriasen
dc.subject.meshPolymorphism, Geneticen
dc.subject.meshPolymorphism, Restriction Fragment Lengthen
dc.subject.meshSequence Analysis, DNAen
dc.titleA molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlementen
dc.typeArticleen
dc.contributor.departmentJohn F. Kennedy Institute, Glostrup, Denmark.en
dc.identifier.journalEuropean journal of human genetics : EJHGen
html.description.abstractIceland was settled during the late 9th and early 10th centuries AD by Vikings who arrived from Norway and the British Isles. Although it is generally acknowledged that the Vikings brought with them Celtic slaves, the relative contribution of these peoples to the modern Icelandic gene pool has been a matter of considerable discussion. Most population genetic studies using classical markers have indicated a large Irish genetic contribution. We have investigated the molecular basis of phenylketonuria (PKU) in 17 Icelandic patients and found 9 different mutations in the phenylalanine hydroxylase gene. One novel mutation, Y377fsdelT, accounts for more than 40% of the mutant chromosomes. Haplotype data support a common ancestral origin of the mutation, and genealogical examination extending back more than 5 generations shows that this mutation has probably arisen in an isolated part of southern Iceland and was enriched by a founder effect. At least 7 PKU mutations have originated outside iceland. The almost exclusively Scandinavian background of these mutations and the complete absence of common Irish PKU mutations strongly support historical and linguistic evidence of a predominant Scandinavian heritage of the Icelandic people.


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